Chiu N C, Qian W H, Shanske A L, Brooks S S, Boustany R M
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
Pediatr Neurol. 1996 Jan;14(1):53-6. doi: 10.1016/0887-8994(95)00255-3.
Several mutation sites have been found in the beta-galactosidase gene of patients with GM1 gangliosidosis. In a previous report we found a common point mutation site in American patients with GM1 gangliosidosis resulting in a 208Arg --> Cys amino acid substitution. From the patients' family history, we suggested that this mutation may have come to South and North America via Puerto Rico. Four new patients with infantile GM1 gangliosidosis have been analyzed with allele-specific hybridization. Two siblings from Puerto Rico of Spanish ancestry are homozygous for this mutation. Another patient also from Puerto Rico is heterozygous for this allele, and another black patient does not have this mutation. These results support our initial hypothesis that this mutation has probably arisen in Puerto Rico.
在GM1神经节苷脂贮积症患者的β-半乳糖苷酶基因中发现了几个突变位点。在之前的一份报告中，我们发现美国GM1神经节苷脂贮积症患者中存在一个常见的点突变位点，该突变导致208位精氨酸（Arg）被半胱氨酸（Cys）取代。根据患者的家族病史，我们推测这种突变可能是通过波多黎各传入南美洲和北美洲的。通过等位基因特异性杂交分析了4例婴儿型GM1神经节苷脂贮积症的新患者。两名来自波多黎各的西班牙裔血统的兄弟姐妹对此突变呈纯合状态。另一名同样来自波多黎各的患者对此等位基因呈杂合状态，而另一名黑人患者则没有这种突变。这些结果支持了我们最初的假设，即这种突变可能起源于波多黎各。
